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The protein encoded by this gene is a member of the WD repeat superfamily of proteins, which have regulatory functions. This gene is expressed in many tissue types including several types of eye tissue, and it has been associated with ocular phenotypes. In addition, it is upregulated in cultured cells that overexpress growth factor independence 1B, a transcription factor that is essential for hematopoietic cell development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
DMXL1 (Dmx Like 1) is a Protein Coding gene. Diseases associated with DMXL1 include Retinitis Pigmentosa 69 and Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency. An important paralog of this gene is DMXL2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0043291 | RAVE complex | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007035 | vacuolar acidification | IBA | 21873635 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21a | · | 21b | ^ | 22a | · | 22b | ^ | 23a | · | 23b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: |
ExUns: | 24a | · | 24b | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31a | · | 31b | · | 31c | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36 | ^ | 37a | · | 37b | ^ | 38 | ^ | 39 | ^ | 40 | ^ | 41 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||||||||||||||||
SP10: | |||||||||||||||||||||||||||||||||||||||||||
SP11: | - | ||||||||||||||||||||||||||||||||||||||||||
SP12: | |||||||||||||||||||||||||||||||||||||||||||
SP13: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DMXL1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DMXL1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LOC534524 30 |
|
||
DMXL1 31 |
|
OneToOne | |||
Rat (Rattus norvegicus) |
Mammalia | Dmxl1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Dmxl1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | DMXL1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DMXL1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | DMXL1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DMXL1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dmxl1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.11740 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | DMXL1 31 |
|
OneToOne | |
LOC100333625 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Rbcn-3A 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | rbc-1 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RAV1 31 33 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
709226 | Likely Benign: not provided | 119,129,431(+) | T/C | INTRON_VARIANT | |
712576 | Benign: not provided | 119,197,942(+) | A/G | SYNONYMOUS_VARIANT | |
713080 | Benign: not provided | 119,116,244(+) | C/T | SYNONYMOUS_VARIANT | |
713892 | Likely Benign: not provided | 119,221,065(+) | G/A | MISSENSE_VARIANT | |
717210 | Likely Benign: not provided | 119,133,167(+) | C/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv5794n100 | CNV | gain | 25217958 |
esv2670990 | CNV | deletion | 23128226 |
esv2730670 | CNV | deletion | 23290073 |
esv2759374 | CNV | loss | 17122850 |
esv3402952 | CNV | insertion | 20981092 |
esv3606479 | CNV | gain | 21293372 |
nsv1016595 | CNV | gain | 25217958 |
nsv1018539 | CNV | gain | 25217958 |
nsv275 | CNV | insertion | 15895083 |
nsv4973 | CNV | insertion | 18451855 |
nsv509083 | CNV | insertion | 20534489 |
nsv511113 | OTHER | complex | 20534489 |
nsv599564 | CNV | gain | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
retinitis pigmentosa 69 |
|
|
myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency |
|
|
retinitis pigmentosa |
|
|